Bertini, Enrico: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Contre le style/The End of Style

Armand, Enrico Baj, Bemporad, Gianni Bertini, Jacques Calonne, Stanley Chapmans, Mario Colucci, Dangelo, Enrico de Miceli, Reinhout D'Haese, Wout Hoeboer, Hundertwasser, Yves Klein, Théodore Koenig ,

Journal:

Year:

1970

File:

PDF, 106 KB

1970

2

Sleep-Disordered Breathing in Spinal Muscular Atrophy Types 1 and 2

Testa, Maria Beatrice Chiarini, Pavone, Martino, Bertini, Enrico, Petrone, Albino, Pagani, Marco, Cutrera, Renato

Journal:

American Journal of Physical Medicine & Rehabilitation

Year:

2005

Language:

english

File:

PDF, 196 KB

english, 2005

3

Childhood spinal muscular atrophy: controversies and challenges

Eugenio Mercuri, Enrico Bertini, Susan T Iannaccone

Journal:

The Lancet Neurology

Year:

2012

Language:

english

File:

PDF, 169 KB

english, 2012

4

[ACM Press the 2017 CHI Conference - Denver, Colorado, USA (2017.05.06-2017.05.12)] Proceedings of the 2017 CHI Conference on Human Factors in Computing Systems - CHI '17 - Showing People Behind Data

Boy, Jeremy, Pandey, Anshul Vikram, Emerson, John, Satterthwaite, Margaret, Nov, Oded, Bertini, Enrico

Year:

2017

Language:

english

File:

PDF, 5.01 MB

english, 2017

5

An International Classification of Inherited Metabolic Disorders ( ICIMD )

Ferreira, Carlos R., Rahman, Shamima, Keller, Markus, Zschocke, Johannes, Jose, Abdenur, Houda, Ali, Rafael, Artuch, Andrea, Ballabio, Bruce, Barshop, Matthias, Baumgartner, Silvio, Bertini Enrico, Ne

Journal:

Journal of Inherited Metabolic Disease

Year:

2020

File:

PDF, 1.75 MB

2020

6

Maternally inherited cardiomyopathy: A new phenotype associated with the A to G at nt.3243 of mitochondrial DNA (MELAS mutation)

Gabriella Silvestri, Enrico Bertini, Serenella Servidei, Michele Rana, Elisabetta Zachara, Enzo Ricci, Pietro Tonali

Journal:

Year:

1997

Language:

english

File:

PDF, 296 KB

english, 1997

7

Improving visual analytics environments through a methodological framework for automatic clutter reduction

Enrico Bertini, Giuseppe Santucci

Journal:

Journal of Visual Languages & Computing

Year:

2011

Language:

english

File:

PDF, 5.38 MB

english, 2011

8

[ACM Press the working conference - Venezia, Italy (2006.05.23-2006.05.26)] Proceedings of the working conference on Advanced visual interfaces - AVI '06 - Appropriating and assessing heuristics for mobile computing

Bertini, Enrico, Gabrielli, Silvia, Kimani, Stephen

Year:

2006

Language:

english

File:

PDF, 185 KB

english, 2006

9

The Persuasive Power of Data Visualization

Pandey, Anshul Vikram, Manivannan, Anjali, Nov, Oded, Satterthwaite, Margaret, Bertini, Enrico

Journal:

IEEE Transactions on Visualization and Computer Graphics

Year:

2014

Language:

english

File:

PDF, 738 KB

english, 2014

10

Taking Word Clouds Apart: An Empirical Investigation of the Design Space for Keyword Summaries

Felix, Cristian, Franconeri, Steven, Bertini, Enrico

Journal:

IEEE Transactions on Visualization and Computer Graphics

Year:

2018

Language:

english

File:

PDF, 361 KB

english, 2018

11

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

Mercuri, Eugenio, Finkel, Richard S., Muntoni, Francesco, Wirth, Brunhilde, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Bertini, Enrico, D

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 1014 KB

english, 2018

12

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Astrea, Guja, Romano, Alessandro, Angelini, Corrado, Antozzi, Carlo Giuseppe, Barresi, Rita, Battini, Roberta, Battisti, Carla, Bertini, Enrico, Bruno, Claudio, Cassandrini, Denise, Fanin, Marina, Fat

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 820 KB

english, 2018

13

Evaluation of Gait in Duchenne Muscular Dystrophy: Relation of 3D Gait Analysis to Clinical Assessment

Romano, Alberto, Favetta, Martina, Schirinzi, Tommaso, Summa, Susanna, Minosse, Silvia, Catteruccia, Michela, Petrarca, Maurizio, Castelli, Enrico, Bertini, Enrico, Vasco, Gessica

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 776 KB

english, 2019

14

Abnormalities of somatosensory and motor evoked potentials in adrenomyeloneuropathy: Comparison with magnetic resonance imaging and clinical findings

Domenico Restuccia, Vincenzo Di Lazzaro, Massimiliano Valeriani, Antonio Oliviero, Domenica Le Pera, Carmen Barba, Marco Cappa, Enrico Bertini, Pietro Tonali

Journal:

Year:

1997

Language:

english

File:

PDF, 155 KB

english, 1997

15

Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers

Carlo Dionisi Vici, Gaetano Sabetta, Manuela Gambarara, Federico Vigevano, Enrico Bertini, Renata Boldrini, Saverio Giuseppe Parisi, Isabella Quinti, Fernando Aiuti, Massimo Fiorilli, John M. Optiz, J

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 557 KB

english, 1988

16

Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: Report of a new patient

Veronica Bertini, Angelo Valetto, Angela Uccelli, Alice Bonuccelli, Enrico Tarantino, Grazia Taddeucci, Paolo Simi

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 186 KB

english, 2008

17

Motor function–muscle strength relationship in spinal muscular atrophy

Luciano Merlini, Enrico Bertini, Carlo Minetti, Tiziana Mongini, Lucia Morandi, Corrado Angelini, Giuseppe Vita

Journal:

Year:

2004

Language:

english

File:

PDF, 73 KB

english, 2004

18

X-linked disorders with cerebellar dysgenesis

Ginevra Zanni, Enrico S Bertini

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 729 KB

english, 2011

19

Molecular Genetic Analysis of thePLP1Gene in 38 Families withPLP1-related disorders: Identification and Functional Characterization of 11 NovelPLP1Mutations

Serena Grossi, Stefano Regis, Roberta Biancheri, Matthew Mort, Susanna Lualdi, Enrico Bertini, Graziella Uziel, Odile Boespflug-Tanguy, Alessandro Simonati, Fabio Corsolini, Ercan Demir, Valentina Mar

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 454 KB

english, 2011

20

Spinal muscular atrophy

Adele D’Amico, Eugenio Mercuri, Francesco D Tiziano, Enrico Bertini

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 344 KB

english, 2011

21

Geological structure of a long-living geothermal system, Larderello, Italy

Giovanni Bertini, Michele Casini, Giovanni Gianelli, Enrico Pandeli

Journal:

Year:

2006

Language:

english

File:

PDF, 942 KB

english, 2006

22

Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy

ENRICO BERTINI, GUGLIELMINA PEPE

Journal:

European Journal of Paediatric Neurology

Year:

2002

Language:

english

File:

PDF, 100 KB

english, 2002

23

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

Andrea Poretti, Giuseppina Vitiello, Raoul CM Hennekam, Filippo Arrigoni, Enrico Bertini, Renato Borgatti, Francesco Brancati, Stefano D’Arrigo, Francesca Faravelli, Lucio Giordano, Thierry AGM Huisma

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 1.27 MB

english, 2012

24

Biochemical and genetic analysis of Leigh syndrome with complex I deficiency

Dina A. Mehaney⁎, Fayza A. Hassan, Laila A. Selim, Sawsn A. Hassan, Enrico Bertini, Fillipo Santorelli, Fabiana Fattori, Randa Sabry, Reham Zeyada

Journal:

Year:

2011

Language:

english

File:

PDF, 68 KB

english, 2011

25

Analysis of glutathione: implication in redox and detoxification

Anna Pastore, Giorgio Federici, Enrico Bertini, Fiorella Piemonte

Journal:

Clinica Chimica Acta

Year:

2003

Language:

english

File:

PDF, 296 KB

english, 2003

26

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23–24 November 2001, Naarden, The Netherlands

Guglielmina Pepe, Enrico Bertini, Paolo Bonaldo, Kate Bushby, Betti Giusti, Marianne de Visser, Pascale Guicheney, Giovanna Lattanzi, Luciano Merlini, Francesco Muntoni, Ichizo Nishino, Ikuya Nonaka,

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 109 KB

english, 2002

27

Clinical factors as predictors of survival in spinal muscular atrophy type I

Adele D'Amico, Marina Cuttini, Lucilla Ravà, Eugenio Mercuri, Sonia Messina, Marika Pane, Chiara Mastella, Maria Beatrice Chiarini-Testa, Christina Brahe, Danilo Tiziano, Guiseppe Vita, Enrico Bertini

Journal:

Paediatrics and Child Health

Year:

2008

Language:

english

File:

PDF, 123 KB

english, 2008

28

Mitochondrial DNA depletion syndromes: an update

Federica Deodato, Simona Lucioli, Cristiano Rizzo, Maria Chiara Meschini, Filippo M. Santorelli, Enrico Bertini, Carlo Dionisi-Vici, Rosalba Carrozzo

Journal:

Paediatrics and Child Health

Year:

2009

Language:

english

File:

PDF, 221 KB

english, 2009

29

The empowerment of translational research: lessons from laminopathies

Sara Benedetti, Pia Bernasconi, Enrico Bertini, Elena Biagini, Giuseppe Boriani, Cristina Capanni, Nicola Carboni, Giovanna Cenacchi, Marta Columbaro, Monica D’Adamo, Adele D’Amico, Maria Rosaria D’Ap

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 127 KB

english, 2012

30

INFUSE: Interactive Feature Selection for Predictive Modeling of High Dimensional Data

Krause, Josua, Perer, Adam, Bertini, Enrico

Journal:

IEEE Transactions on Visualization and Computer Graphics

Year:

2014

Language:

english

File:

PDF, 7.65 MB

english, 2014

31

Palynological investigation of a Late Quaternary calcareous tufa and travertine deposit: the case study of Bagnoli in the Valdelsa Basin (Tuscany, central Italy)

Ricci, Marianna, Bertini, Adele, Capezzuoli, Enrico, Horvatinčić, Nada, Andrews, Julian E., Fauquette, Severine, Fedi, Mariaelena

Journal:

Review of Palaeobotany and Palynology

Year:

2015

Language:

english

File:

PDF, 2.27 MB

english, 2015

32

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Cullup, Thomas, Kho, Ay Lin, Dionisi-Vici, Carlo, Brandmeier, Birgit, Smith, Frances, Urry, Zoe, Simpson, Michael A, Yau, Shu, Bertini, Enrico, McClelland, Verity, Al-Owain, Mohammed, Koelker, Stefan,

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 1.17 MB

english, 2012

33

[ACM Press the SIGCHI Conference - Paris, France (2013.04.27-2013.05.02)] Proceedings of the SIGCHI Conference on Human Factors in Computing Systems - CHI '13 - Evaluation of alternative glyph designs for time series data in a small multiple setting

Fuchs, Johannes, Fischer, Fabian, Mansmann, Florian, Bertini, Enrico, Isenberg, Petra

Year:

2013

Language:

english

File:

PDF, 1.07 MB

english, 2013

34

The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome

Martinelli, Diego, Diodato, Daria, Ponzi, Emanuela, Monné, Magnus, Boenzi, Sara, Bertini, Enrico, Fiermonte, Giuseppe, Dionisi-Vici, Carlo

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.16 MB

english, 2015

35

Familial periventricular nodular heterotopia, epilepsy and Melnick–Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects

Parrini, Elena, Mei, Davide, Pisanti, Maria Antonietta, Catarzi, Serena, Pucatti, Daniela, Bianchini, Claudia, Mascalchi, Mario, Bertini, Enrico, Morrone, Amelia, Cavaliere, Maria Luigia, Guerrini, Re

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.71 MB

english, 2015

36

[ACM Press the 33rd Annual ACM Conference - Seoul, Republic of Korea (2015.04.18-2015.04.23)] Proceedings of the 33rd Annual ACM Conference on Human Factors in Computing Systems - CHI '15 - How Deceptive are Deceptive Visualizations?

Pandey, Anshul Vikram, Rall, Katharina, Satterthwaite, Margaret L., Nov, Oded, Bertini, Enrico

Year:

2015

Language:

english

File:

PDF, 1.17 MB

english, 2015

37

The Influence of Contour on Similarity Perception of Star Glyphs

Fuchs, Johannes, Isenberg, Petra, Bezerianos, Anastasia, Fischer, Fabian, Bertini, Enrico

Journal:

IEEE Transactions on Visualization and Computer Graphics

Year:

2014

Language:

english

File:

PDF, 644 KB

english, 2014

38

Muscle magnetic resonance imaging and histopathology in ACTA1- related congenital nemaline myopathy

Castiglioni, Claudia, Cassandrini, Denis, Fattori, Fabiana, Bellacchio, Emanuele, D'Amico, Adele, Alvarez, Karin, Gejman, Roger, Diaz, Jorge, Santorelli, Filippo M., Romero, Norma B., Bertini, Enrico,

Journal:

Year:

2014

Language:

english

File:

PDF, 3.61 MB

english, 2014

39

A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodelling in a female with Danon disease: a case report and literature review

Irene, Bottillo, Carla, Giordano, Bruna, Cerbelli, Daniela, D'Angelantonio, Martina, Lipari, Taisia, Polidori, Silvia, Majore, Enrico, Bertini, Adele, D'Amico, Diana, Giannarelli, Carmelilia, De Berna

Journal:

Cardiovascular Pathology

Year:

2016

Language:

english

File:

PDF, 2.51 MB

english, 2016

40

InVEST: Intelligent visual email search and triage

Koven, Jay, Bertini, Enrico, Dubois, Luke, Memon, Nasir

Journal:

Digital Investigation

Year:

2016

Language:

english

File:

PDF, 2.15 MB

english, 2016

41

Data Visualization for Human Rights Advocacy

Rall, Katharina, Satterthwaite, Margaret L., Pandey, Anshul Vikram, Emerson, John, Boy, Jeremy, Nov, Oded, Bertini, Enrico

Journal:

Journal of Human Rights Practice

Year:

2016

Language:

english

File:

PDF, 603 KB

english, 2016

42

[ASME ASME Turbo Expo 2013: Turbine Technical Conference and Exposition - San Antonio, Texas, USA (Monday 3 June 2013)] Volume 6B: Turbomachinery - A Critical Numerical Review of Loss Correlation Models and Smith Diagram for Modern Low Pressure Turbine Stages

Bertini, Francesco, Ampellio, Enrico, Marconcini, Michele, Giovannini, Matteo

Year:

2013

Language:

english

File:

PDF, 1.58 MB

english, 2013

43

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

Elena Maria Pennisi,Marcello Arca,Enrico Bertini…

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 2.49 MB

english, 2017

44

[ACM Press the 2nd Workshop - Chicago, IL, USA (2017.05.14-2017.05.19)] Proceedings of the 2nd Workshop on Human-In-the-Loop Data Analytics - HILDA'17 - Interpreting Black-Box Classifiers Using Instance-Level Visual Explanations

Tamagnini, Paolo, Krause, Josua, Dasgupta, Aritra, Bertini, Enrico

Year:

2017

Language:

english

File:

PDF, 1.12 MB

english, 2017

45

The Effect of Color Scales on Climate Scientists' Objective and Subjective Performance in Spatial Data Analysis Tasks

Dasgupta, Aritra, Poco, Jorge, Rogowitz, Bernice, Han, Kyungsik, Bertini, Enrico, Silva, Claudio T.

Journal:

IEEE Transactions on Visualization and Computer Graphics

Year:

2018

Language:

english

File:

PDF, 31.36 MB

english, 2018

46

An unusual case of late-infantile onset Krabbe disease with selective bilateral corticospinal tract involvement, peripheral demyelinating neuropathy, and mild phenotype

Nicita, Francesco, Graziola, Federica, Vigevano, Federico, Bertini, Enrico, Capuano, Alessandro

Journal:

Acta Neurologica Belgica

Year:

2019

Language:

english

File:

PDF, 655 KB

english, 2019

47

[IEEE 2017 IEEE Conference on Visual Analytics Science and Technology (VAST) - Phoenix, AZ (2017.10.3-2017.10.6)] 2017 IEEE Conference on Visual Analytics Science and Technology (VAST) - A Workflow for Visual Diagnostics of Binary Classifiers using Instance-Level Explanations

Krause, Josua, Dasgupta, Aritra, Swartz, Jordan, Aphinyanaphongs, Yindalon, Bertini, Enrico

Year:

2017

Language:

english

File:

PDF, 10 KB

english, 2017

48

Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia

Olivieri, Giorgia, Pro, Stefano, Diodato, Daria, Di Capua, Matteo, Longo, Daniela, Martinelli, Diego, Bertini, Enrico, Dionisi-Vici, Carlo

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 1017 KB

english, 2019

49

One-year outcome of coenzyme Q10 supplementation in ADCK3 ataxia (ARCA2)

Schirinzi, Tommaso, Favetta, Martina, Romano, Alberto, Sancesario, Andrea, Summa, Susanna, Minosse, Silvia, Zanni, Ginevra, Castelli, Enrico, Bertini, Enrico, Petrarca, Maurizio, Vasco, Gessica

Journal:

Cerebellum & Ataxias

Year:

2019

File:

PDF, 549 KB

2019

50

TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics

Sferra, Antonella, Petrini, Stefania, Bellacchio, Emanuele, Nicita, Francesco, Scibelli, Francesco, Dentici, Maria Lisa, Alfieri, Paolo, Cestra, Gianluca, Bertini, Enrico Silvio, Zanni, Ginevra

Journal:

International Journal of Molecular Sciences

Year:

2020

Language:

english

File:

PDF, 3.81 MB

english, 2020